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Caenorhabditis elegans functional orthologue of human protein h-mucolipin-1 is required for lysosome biogenesis

Mucolipidosis type IV (MLIV) is an autosomal recessive lysosomal storage disease characterized by severe psychomotor retardation, achlorhydria, and ophthalmological abnormalities. Cells from several tissues in MLIV patients accumulate large vacuoles that are presumed to be lysosomes, but whose exact...

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Bibliografische gegevens
Gepubliceerd in:Proc Natl Acad Sci U S A
Hoofdauteurs: Treusch, Sebastian, Knuth, Sarah, Slaugenhaupt, Susan A., Goldin, Ehud, Grant, Barth D., Fares, Hanna
Formaat: Artigo
Taal:Inglês
Gepubliceerd in: National Academy of Sciences 2004
Onderwerpen:
Online toegang:https://ncbi.nlm.nih.govhttps://pmc.ncbi.nlm.nih.gov/articles/PMC384773/
https://ncbi.nlm.nih.govhttps://pubmed.ncbi.nlm.nih.gov/15070744/
https://ncbi.nlm.nih.govhttps://doi.org/10.1073/pnas.0400709101
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